Incidental Mutation 'R7729:AW551984'
ID |
595717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
045785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 39511071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 172
(P172L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042485
AA Change: P172L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: P172L
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119722
AA Change: P172L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: P172L
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130829
|
SMART Domains |
Protein: ENSMUSP00000117262 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141370
AA Change: P172L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112 AA Change: P172L
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
G |
2: 127,028,710 (GRCm39) |
D163A |
possibly damaging |
Het |
Abce1 |
A |
T |
8: 80,414,537 (GRCm39) |
I454N |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,262,339 (GRCm39) |
I1980M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,885,917 (GRCm39) |
T19M |
probably benign |
Het |
Agmo |
T |
A |
12: 37,464,974 (GRCm39) |
S417T |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,552,068 (GRCm39) |
E403G |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,711 (GRCm39) |
A23T |
possibly damaging |
Het |
Atg9a |
T |
C |
1: 75,161,204 (GRCm39) |
T681A |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,832,256 (GRCm39) |
Q37R |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,629,829 (GRCm39) |
E80G |
probably benign |
Het |
Bace1 |
C |
T |
9: 45,769,743 (GRCm39) |
R296C |
probably damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,840 (GRCm39) |
H334Q |
probably benign |
Het |
Chtf18 |
C |
T |
17: 25,942,491 (GRCm39) |
R449H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,122,881 (GRCm39) |
H1384R |
possibly damaging |
Het |
Cltc |
A |
G |
11: 86,612,474 (GRCm39) |
I524T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,160,042 (GRCm39) |
I94N |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,472 (GRCm39) |
D3078V |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,943,683 (GRCm39) |
P520S |
|
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,145,366 (GRCm39) |
Y1130N |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,744,797 (GRCm39) |
T224A |
probably damaging |
Het |
Flt1 |
T |
A |
5: 147,637,177 (GRCm39) |
T39S |
probably benign |
Het |
Fxyd1 |
T |
C |
7: 30,752,896 (GRCm39) |
Y33C |
probably damaging |
Het |
Gab2 |
T |
A |
7: 96,950,633 (GRCm39) |
V442E |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,076 (GRCm39) |
D800G |
probably benign |
Het |
Gata4 |
C |
A |
14: 63,478,186 (GRCm39) |
A138S |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,131 (GRCm39) |
H751R |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,880,455 (GRCm39) |
R203G |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,527,093 (GRCm39) |
V234A |
possibly damaging |
Het |
Igkv4-74 |
A |
T |
6: 69,161,954 (GRCm39) |
Y72N |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,940 (GRCm39) |
K973E |
probably damaging |
Het |
Khdc1b |
C |
A |
1: 21,455,065 (GRCm39) |
T108K |
probably benign |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,225,474 (GRCm39) |
V666E |
probably damaging |
Het |
Mettl25 |
T |
A |
10: 105,601,871 (GRCm39) |
Y528F |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,940,904 (GRCm39) |
Y619* |
probably null |
Het |
Nlrp12 |
A |
C |
7: 3,277,020 (GRCm39) |
|
probably null |
Het |
Nol10 |
C |
T |
12: 17,474,676 (GRCm39) |
L623F |
possibly damaging |
Het |
Oas1g |
A |
G |
5: 121,024,063 (GRCm39) |
F82S |
probably damaging |
Het |
Or1j8 |
T |
G |
2: 36,191,772 (GRCm39) |
S74A |
probably benign |
Het |
Or5k3 |
C |
T |
16: 58,969,570 (GRCm39) |
A119V |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,546 (GRCm39) |
P58L |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,686,863 (GRCm39) |
E582K |
probably damaging |
Het |
Pdia3 |
A |
G |
2: 121,262,838 (GRCm39) |
D268G |
possibly damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,434 (GRCm39) |
S378G |
probably damaging |
Het |
Rcor3 |
A |
G |
1: 191,786,078 (GRCm39) |
Y387H |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,206,034 (GRCm39) |
I853F |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
T |
C |
13: 67,330,284 (GRCm39) |
L244P |
possibly damaging |
Het |
Scn5a |
G |
T |
9: 119,324,606 (GRCm39) |
N1407K |
probably damaging |
Het |
Sdcbp |
C |
T |
4: 6,378,985 (GRCm39) |
A24V |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,323 (GRCm39) |
Y18C |
possibly damaging |
Het |
Slc35d1 |
C |
T |
4: 103,072,044 (GRCm39) |
R7H |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,425,248 (GRCm39) |
T599S |
probably damaging |
Het |
Spata31d1e |
C |
T |
13: 59,889,437 (GRCm39) |
M794I |
not run |
Het |
St18 |
T |
A |
1: 6,872,761 (GRCm39) |
H165Q |
probably benign |
Het |
Sub1 |
C |
T |
15: 11,986,589 (GRCm39) |
R86K |
probably damaging |
Het |
Tectb |
G |
A |
19: 55,181,104 (GRCm39) |
V148M |
|
Het |
Tgfb2 |
C |
A |
1: 186,362,954 (GRCm39) |
G290V |
possibly damaging |
Het |
Tgm7 |
T |
C |
2: 120,924,191 (GRCm39) |
H577R |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,422,981 (GRCm39) |
S460P |
probably damaging |
Het |
Tmem221 |
C |
A |
8: 72,011,446 (GRCm39) |
R3L |
possibly damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,212,183 (GRCm39) |
V156L |
possibly damaging |
Het |
Trav6-5 |
A |
G |
14: 53,728,964 (GRCm39) |
K75E |
probably benign |
Het |
Trip10 |
G |
A |
17: 57,569,442 (GRCm39) |
G488S |
probably damaging |
Het |
Usp34 |
A |
C |
11: 23,399,268 (GRCm39) |
K2419T |
|
Het |
Vps13d |
T |
C |
4: 144,801,622 (GRCm39) |
Q3532R |
|
Het |
Vps4a |
A |
T |
8: 107,767,529 (GRCm39) |
I163L |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,454 (GRCm39) |
H330R |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,188,618 (GRCm39) |
I341V |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,548,973 (GRCm39) |
E105G |
probably benign |
Het |
|
Other mutations in AW551984 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:AW551984
|
APN |
9 |
39,504,145 (GRCm39) |
missense |
probably benign |
0.16 |
IGL00869:AW551984
|
APN |
9 |
39,504,730 (GRCm39) |
splice site |
probably benign |
|
IGL01411:AW551984
|
APN |
9 |
39,505,087 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01744:AW551984
|
APN |
9 |
39,502,568 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02102:AW551984
|
APN |
9 |
39,500,987 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02149:AW551984
|
APN |
9 |
39,504,220 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02151:AW551984
|
APN |
9 |
39,504,241 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02154:AW551984
|
APN |
9 |
39,500,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02158:AW551984
|
APN |
9 |
39,510,621 (GRCm39) |
missense |
probably null |
0.99 |
IGL02574:AW551984
|
APN |
9 |
39,500,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02754:AW551984
|
APN |
9 |
39,504,624 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02754:AW551984
|
APN |
9 |
39,507,922 (GRCm39) |
nonsense |
probably null |
|
IGL02838:AW551984
|
APN |
9 |
39,505,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:AW551984
|
APN |
9 |
39,500,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03328:AW551984
|
APN |
9 |
39,508,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:AW551984
|
APN |
9 |
39,511,062 (GRCm39) |
missense |
possibly damaging |
0.52 |
PIT4260001:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R0141:AW551984
|
UTSW |
9 |
39,501,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R0269:AW551984
|
UTSW |
9 |
39,511,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:AW551984
|
UTSW |
9 |
39,510,617 (GRCm39) |
missense |
probably benign |
0.14 |
R0453:AW551984
|
UTSW |
9 |
39,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:AW551984
|
UTSW |
9 |
39,511,912 (GRCm39) |
missense |
probably null |
1.00 |
R1005:AW551984
|
UTSW |
9 |
39,505,029 (GRCm39) |
nonsense |
probably null |
|
R1585:AW551984
|
UTSW |
9 |
39,510,632 (GRCm39) |
nonsense |
probably null |
|
R2177:AW551984
|
UTSW |
9 |
39,511,111 (GRCm39) |
missense |
probably benign |
|
R3117:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3119:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3836:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3837:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3839:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R4299:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R4422:AW551984
|
UTSW |
9 |
39,511,373 (GRCm39) |
missense |
probably null |
0.00 |
R4713:AW551984
|
UTSW |
9 |
39,508,449 (GRCm39) |
missense |
probably benign |
0.13 |
R4905:AW551984
|
UTSW |
9 |
39,508,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R4966:AW551984
|
UTSW |
9 |
39,508,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5022:AW551984
|
UTSW |
9 |
39,509,261 (GRCm39) |
missense |
probably benign |
0.00 |
R5041:AW551984
|
UTSW |
9 |
39,511,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:AW551984
|
UTSW |
9 |
39,505,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:AW551984
|
UTSW |
9 |
39,501,994 (GRCm39) |
missense |
probably benign |
|
R5443:AW551984
|
UTSW |
9 |
39,509,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5532:AW551984
|
UTSW |
9 |
39,508,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5536:AW551984
|
UTSW |
9 |
39,504,169 (GRCm39) |
missense |
probably benign |
0.04 |
R5586:AW551984
|
UTSW |
9 |
39,502,559 (GRCm39) |
missense |
probably benign |
0.01 |
R5601:AW551984
|
UTSW |
9 |
39,502,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5618:AW551984
|
UTSW |
9 |
39,502,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:AW551984
|
UTSW |
9 |
39,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
R6122:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6142:AW551984
|
UTSW |
9 |
39,508,410 (GRCm39) |
missense |
probably benign |
0.00 |
R6272:AW551984
|
UTSW |
9 |
39,509,333 (GRCm39) |
missense |
probably benign |
0.06 |
R6429:AW551984
|
UTSW |
9 |
39,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R6659:AW551984
|
UTSW |
9 |
39,500,395 (GRCm39) |
missense |
probably benign |
0.00 |
R6670:AW551984
|
UTSW |
9 |
39,504,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:AW551984
|
UTSW |
9 |
39,511,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:AW551984
|
UTSW |
9 |
39,512,085 (GRCm39) |
missense |
probably benign |
0.11 |
R7077:AW551984
|
UTSW |
9 |
39,502,723 (GRCm39) |
missense |
probably benign |
|
R7083:AW551984
|
UTSW |
9 |
39,508,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:AW551984
|
UTSW |
9 |
39,504,221 (GRCm39) |
missense |
probably benign |
|
R7475:AW551984
|
UTSW |
9 |
39,509,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:AW551984
|
UTSW |
9 |
39,502,777 (GRCm39) |
missense |
probably benign |
0.03 |
R7542:AW551984
|
UTSW |
9 |
39,505,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7708:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R7955:AW551984
|
UTSW |
9 |
39,507,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:AW551984
|
UTSW |
9 |
39,510,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8358:AW551984
|
UTSW |
9 |
39,510,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R8402:AW551984
|
UTSW |
9 |
39,508,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:AW551984
|
UTSW |
9 |
39,511,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8810:AW551984
|
UTSW |
9 |
39,511,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:AW551984
|
UTSW |
9 |
39,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R8871:AW551984
|
UTSW |
9 |
39,500,998 (GRCm39) |
nonsense |
probably null |
|
R9019:AW551984
|
UTSW |
9 |
39,508,973 (GRCm39) |
nonsense |
probably null |
|
Z1088:AW551984
|
UTSW |
9 |
39,501,899 (GRCm39) |
nonsense |
probably null |
|
ZE80:AW551984
|
UTSW |
9 |
39,504,963 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGAAAGTGTGGAGGATCCC -3'
(R):5'- AGATACCATCTCTCCGGTGAGTG -3'
Sequencing Primer
(F):5'- TGGATGAGGACCACGAGTTC -3'
(R):5'- TCCGGTGAGTGCCTCTC -3'
|
Posted On |
2019-11-12 |